Canonical Allele Identifier: CA2638017112
Gene: WNK4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42787448_42787455del , CM000679.2:g.42787448_42787455del GRCh38
NC_000017.10:g.40939466_40939473del , CM000679.1:g.40939466_40939473del GRCh37
NC_000017.9:g.38192992_38192999del NCBI36
NG_016227.1:g.11818_11825del

Transcript Alleles

HGVS Amino-acid Change
ENST00000246914.10:c.1647_1654del MANE Select ENSP00000246914.4:p.Pro550CysfsTer5
ENST00000246914.9:c.1647_1654del ENSP00000246914.4:p.Pro550CysfsTer5
ENST00000587705.5:n.327_334del
ENST00000591448.5:c.*148_*155del ENSP00000467088.1:n.*148_*155del
ENST00000592072.1:n.327_334del
NM_032387.4:c.1647_1654del NP_115763.2:p.Pro550CysfsTer5
XM_005257595.3:c.1647_1654del XP_005257652.1:p.Pro550CysfsTer5
XM_005257596.2:c.1647_1654del XP_005257653.1:p.Pro550CysfsTer5
XM_005257597.3:c.1647_1654del XP_005257654.1:p.Pro550CysfsTer5
XM_006722020.2:c.1647_1654del XP_006722083.1:p.Pro550CysfsTer5
XM_006722021.1:c.639_646del XP_006722084.1:p.Pro214CysfsTer5
XM_006722022.1:c.639_646del XP_006722085.1:p.Pro214CysfsTer5
XM_011525132.1:c.1647_1654del XP_011523434.1:p.Pro550CysfsTer5
XM_011525133.1:c.1647_1654del XP_011523435.1:p.Pro550CysfsTer5
XM_011525134.1:c.1647_1654del XP_011523436.1:p.Pro550CysfsTer5
XM_011525135.1:c.1647_1654del XP_011523437.1:p.Pro550CysfsTer5
NM_001321299.1:c.639_646del NP_001308228.1:p.Pro214CysfsTer5
XM_017024962.1:c.1647_1654del XP_016880451.1:p.Pro550CysfsTer5
XM_017024966.1:c.639_646del XP_016880455.1:p.Pro214CysfsTer5
NM_032387.5:c.1647_1654del MANE Select NP_115763.2:p.Pro550CysfsTer5
NM_001321299.2:c.639_646del NP_001308228.1:p.Pro214CysfsTer5